Foetal Development Flashcards

1
Q

What happens in week one of foetal development?

A

Classified as week 3 of clinical pregnancy

  • Determined by the time since the last menstruation
  • Throughout this first week the fertilized ovum will have developed through the morula and blastocyst stages to implant within the uterine wall
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2
Q

what happens in week two, three and four of foetal development?

A

Formation of the bilaminar germ disc, consisting of epiblast and hypoblast.

  • This will form the trilaminar disc through gastrulation in week three
  • By the end of the fourth week, neurulation will have occurred, and the flat trilaminar disc will have undergone cephalo-caudal and lateral folding to form the cylindrical embryo
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3
Q

two phases of week three development

A
  1. The embryonic period is from week 3-8 post fertilization (week 5-10 in terms of clinical pregnancy)
    - This period is where organogenesis occurs, establishing the main organ systems
  2. The foetal period is from week 9-38 post fertilisation (week 11-40 in terms of clinical pregnancy)
    - This period is where tissues and organs mature and grow
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4
Q

Three types of birth defects

A

Birth defects are defined as developmental disorders present at birth

  1. Structural defects are congenital anomalies
  2. Functional defects are organ dysfunctions 

  3. Metabolic defects are defects in enzymes or cells
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5
Q

3 forms of congenital anomalies

A
  1. Malformation occurs during embryonic development itself
    - Results in incomplete or abnormal formation of structure, complete or partial absence of a structure, or an alteration of the normal configuration of a structure 

  2. Disruption is a morphological alteration of a structure that has already formed
    - This is a destructive process e.g. the formation of amniotic bands wrapping around a pre-formed limb and effectively amputating it 

  3. Deformation is the result of mechanical factors external to the foetus
    - e.g. talipes (bent feet and ankles) occurring due to positional restriction in the uterus 

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6
Q

Causes of birth defects

A
  1. Majority of explainable birth defects result from multi-factorial inheritance
  2. Chromosomal or genetic causes of birth defects usually result in multi-organ involvement and will generally cause significant or lethal defects
  3. Environmental - exposure to teratogens
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7
Q

What is a teratogen?

A

A teratogen is defined as an agent that can cause or predispose to a birth defect; this will usually result in the involvement of a single system or only a few systems

If teratogenic insult occurs before the onset of the embryonic period (<2 weeks) it will either have no effect or cause miscarriage

If it occurs in the foetal period (>9 weeks) effects will be minimal, and not usually lead to birth defect but rather have an effect on growth and functional maturation.

The main period in which teratogens will lead to birth defect is in the embryonic period, as this is the period of greatest sensitivity to malformation (different organs will have different periods of peak sensitivity)

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8
Q

Types of teratogen

A

Drugs- alcohol, cocaine, thalidomide, anti-psychotics, ACE inhibitors

Exposure to chemicals- mercury, lead, ionising radiation

Infectious agents- rubella

Maternal factors- diabetes mellitus

Mechanical- malformed uterus

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9
Q

What is Spina Bifida

A

Caused by a defect in the process of Neurulation

  • In primary neurulation, there is the closure of the neural plate into the neural tube
  • If this fails at the caudal end it will result in spina bifida but if this occurs at the cranial end it will cause anencephaly
  • In secondary neurulation, there is the formation of the tail end of the neural tube; this will also cause spina bifida.
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10
Q

3 classifications of spina bifida

A
  1. Occulta results from a defect in the bone surrounding the spinal cord, this will remain hidden and only be discovered incidentally, not causing any functional abnormality 

  2. Meningocele results from a hernation of the meninges and CSF out of the spinal column defect 

  3. Myelomeningocele results from a herniation of the meninges and spinal cord out of the defect
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11
Q

What is a cleft lip and palate

A

can be unilateral or bilateral, and may be hidden due to an effect on the palate alone.

It results from a failure of the fusion of the maxillary process and medial nasal clefts to form the upper lip, and the fusion of the palatal shelves to form the palate.

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12
Q

What is omphalocele?

A

Herniation of the bowel contents into the base of the umbilical cord; this will appear as a transparent sac of amnion attached to the umbilical ring containing herniated viscera

This occurs due to a persistence of the embryonic midgut herniation that occurs normally in foetal development

The presence of omphalocele is an indication of underlying chromosomal or other abnormalities, and should therefore be investigated futher

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13
Q

What is gastrochisis?

A

Evisceration of foetal intestine through a defect in the paraumbilical wall, generally to the right of the umbilicus

This could possibly be due to an involution of the right umbilical vein or right vitelline artery, or abnormal folding of the body wall

It is often associated with young maternal age, smoking, or drug use

Gastrochisis is less severe than omphalocele as it is not an indicator of underlying abnormality, and can often be corrected in a single surgery

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14
Q

Invasive tests for birth defects

A

A, chorionic villus sampling, foetal blood samples, and fetoscopy

These processes carry with them high risks of miscarriage and should only be performed under certain circumstances 


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15
Q

Non-invasive tests for birth defects

A

Imaging such as ultrasound

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16
Q

Screening for Downs syndrome

A

Screening for Down’s syndrome provides the mother with a percentage chance of the foetus having Down’s syndrome, rather than giving a definitive diagnosis

This involves ultrasound scanning to check nuchal translucency, and maternal serum testing for three hormones; AFP, hCG, and uE3 


This screening carries a high rate of false positive and false negative results

False positive results of screening are very dangerous, as if the mother opts to have further testing of the chromosomal structure of the foetus it will involve invasive testing, carrying with it the risk of causing the miscarriage of a healthy child

17
Q

Immunology in pregnancy

A

There is a delicate balance between immunosuppression of the mother in order to prevent rejection of the foetus, and immune activation to protect both mother and foetus from infection

Locally, there is a down-regulation of foetal MHC on the trophoblast, FAS-ligand dependent deletion of T cells, IDO mediated tryptophan depletion, and production of LIF and PDL-1 


Peripherally there is an altered maternal T cell cytokine production, increasing the numbers 
of T-regs, as well as hormonal immunomodulation and deletion of foetal T cells